Lista de obras - Enzo Ricci - Dominio Público Uruguay

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

artículo científico publicado en 2013

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

artículo científico publicado en 2010

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

artículo científico publicado en 2010

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

artículo científico publicado en 2014

An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients ⬇️

artículo científico publicado el 20 de octubre de 2011

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

artículo científico publicado en 2010

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

artículo científico publicado en 2010

Autosomal recessive hypermyelinating neuropathy

artículo científico publicado en 1994

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

artículo científico publicado en 2014

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

scientific article published on 10 November 2010

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

artículo científico publicado en 2014

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

artículo científico publicado en 2003

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

scientific article published on 01 September 1990

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas

artículo científico publicado en 2010

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

artículo científico publicado en 2009

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2004

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

artículo científico publicado en 2007

Coeliac disease presenting with acute disseminated encephalomyelitis

artículo científico publicado en 2006

Congenital muscular dystrophies with cognitive impairment. A population study.

artículo científico publicado en 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

artículo científico publicado en 2009

Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy

artículo científico publicado en 2010

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles ⬇️

artículo científico publicado el 13 de junio de 2012

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2000

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

artículo científico publicado en 2011

Expanding the clinical spectrum of POMT1 phenotype.

artículo científico publicado en 2006

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

artículo científico publicado en 2002

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

artículo científico publicado en 2002

Functional involvement of central nervous system in mitochondrial disorders

artículo científico publicado en 1997

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy ⬇️

artículo científico publicado el 16 de septiembre de 1995

Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: Relationship to myocardial and respiratory function

artículo científico publicado en 2001

Increased aging in primary muscle cultures of sporadic inclusion-body myositis.

artículo científico publicado en 2008

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

artículo científico publicado en 2006

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

scientific article published on 30 August 2007

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

artículo científico publicado en 2012

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

artículo científico publicado en 2013

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

scientific article published on 31 August 2015

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

artículo científico publicado en 1993

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

artículo científico publicado en 1997

Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior

scientific article published on 22 December 2010

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

artículo científico publicado en 2013

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

artículo científico publicado en 2010

Mobility assessment of patients with facioscapulohumeral dystrophy

artículo científico publicado en 2007

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

scientific article published on 01 May 1999

Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2008

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

Muscle MRI in Becker muscular dystrophy

artículo científico publicado en 2012

Muscle MRI in female carriers of dystrophinopathy.

artículo científico publicado en 2012

Muscle imaging findings in GNE myopathy.

artículo científico publicado en 2012

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

artículo científico publicado en 2015

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

artículo científico publicado en 2010

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

artículo científico

Music exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus.

artículo científico publicado en 2007

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

artículo científico publicado en 2012

MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.

artículo científico publicado en 2006

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

artículo científico publicado en 1993

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

artículo científico publicado en 2006

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

artículo científico publicado en 2006

Neurogenic pulmonary edema: a presenting symptom in multiple sclerosis

artículo científico publicado en 1992

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

artículo científico publicado en 1991

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

artículo científico publicado en 2015

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

artículo científico publicado en 2012

Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases

artículo científico publicado en 1997

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

artículo científico publicado en 1994

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

artículo científico publicado en 2008

Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

artículo científico publicado en 2014

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

artículo científico publicado en 1995

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

artículo científico publicado en 2011

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

artículo científico publicado en 2009

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2009

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

artículo científico publicado en 1998

Skeletal muscle apoptosis is not increased in gastric cancer patients with mild-moderate weight loss.

artículo científico publicado en 2006

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2009

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

artículo científico publicado en 2006

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

artículo científico publicado en 2010

Teaching video neuroimages: complicated scapular winging

artículo científico publicado en 2013

The drastic reduction of SMN protein in SMA I spinal cord motor neurons is not due to inefficient transcription

artículo científico publicado en 1999

Thymectomy in the treatment of myasthenia gravis: report of 247 patients

scientific article published on 01 May 1988

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy

artículo científico publicado en 2003

Ultrasound tissue characterization does not differentiate genotype, but indexes ejection fraction deterioration in becker muscular dystrophy

artículo científico publicado en 2014

Upper girdle imaging in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2014

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy

artículo científico publicado en 2004

Lista de obras de Enzo Ricci

'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients ⬇️

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Autosomal recessive hypermyelinating neuropathy

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy.

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

Coeliac disease presenting with acute disseminated encephalomyelitis

Congenital muscular dystrophies with cognitive impairment. A population study.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles ⬇️

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Expanding the clinical spectrum of POMT1 phenotype.

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

Functional involvement of central nervous system in mitochondrial disorders

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy ⬇️

Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: Relationship to myocardial and respiratory function

Increased aging in primary muscle cultures of sporadic inclusion-body myositis.

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study

Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

Mobility assessment of patients with facioscapulohumeral dystrophy

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Mouth leaks may complicate positive airway pressure treatment of OSAS in facioscapulohumeral muscular dystrophy

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Muscle MRI in Becker muscular dystrophy

Muscle MRI in female carriers of dystrophinopathy.

Muscle imaging findings in GNE myopathy.

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Music exposure differentially alters the levels of brain-derived neurotrophic factor and nerve growth factor in the mouse hypothalamus.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

MyoD expression restores defective myogenic differentiation of human mesoangioblasts from inclusion-body myositis muscle.

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

Neurogenic pulmonary edema: a presenting symptom in multiple sclerosis

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

New phenotype and pathology features in MYH7-related distal myopathy

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

Prevalence of congenital muscular dystrophy in Italy: a population study

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

Quality of life and pain in patients with facioscapulohumeral muscular dystrophy.

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy

Skeletal muscle apoptosis is not increased in gastric cancer patients with mild-moderate weight loss.

Sleep disordered breathing in facioscapulohumeral muscular dystrophy.

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations